.

17p13.3 Microduplication Syndrome

LAUR Repository

Show simple item record

dc.contributor.author Farra, Chantal
dc.contributor.author Abdouni, Lina
dc.contributor.author Hani, Abeer
dc.contributor.author Dirani, Leyla
dc.contributor.author Hamdar, Layal
dc.contributor.author Souaid, Mirna
dc.contributor.author Awwad, Johnny
dc.date.accessioned 2022-07-07T09:56:09Z
dc.date.available 2022-07-07T09:56:09Z
dc.date.copyright 2021 en_US
dc.date.issued 2022-07-06
dc.identifier.issn 2146-4596 en_US
dc.identifier.uri http://hdl.handle.net/10725/13795
dc.description.abstract 17p13.3 microduplication syndrome has been associated with a clinical spectrum of phenotypes, and depending on the genes involved in the microduplication, it is categorized into two classes (Class I and Class II). We herein, describe two patients diagnosed with Class I 17p13.3 microduplication by BACs-on-Beads (BoBs) assay and further confirmed by fluorescence in situ hybridization (FISH). Our patients (Patient 1: 4-year-old male; Patient 2: 2-year-old male) presented with developmental delay, intellectual disability, and dysmorphic facial features. When compared with the literature, our patients manifested distinctive features (Patient 1: primary hypothyroidism; Patient 2: bilateral cryptorchidism) that were not previously described in the duplication 17p13.3 spectrum. en_US
dc.language.iso en en_US
dc.title 17p13.3 Microduplication Syndrome en_US
dc.type Article en_US
dc.description.version Published en_US
dc.title.subtitle further delineating the clinical spectrum en_US
dc.author.school SOM en_US
dc.author.idnumber 201509120 en_US
dc.author.department N/A en_US
dc.relation.journal Journal of Pediatric Genetics en_US
dc.journal.volume 10 en_US
dc.journal.issue 3 en_US
dc.article.pages 239-244 en_US
dc.keywords 17p13.3 microduplications en_US
dc.keywords Developmental delay en_US
dc.keywords Dysmorphic features en_US
dc.identifier.doi https://doi.org/10.1055/s-0040-1713673 en_US
dc.identifier.ctation Farra, C., Abdouni, L., Hani, A., Dirani, L., Hamdar, L., Souaid, M., & Awwad, J. (2021). 17p13. 3 Microduplication Syndrome: Further Delineating the Clinical Spectrum. Journal of Pediatric Genetics, 10(03), 239-244. en_US
dc.author.email abeer.hani@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0040-1713673 en_US
dc.orcid.id https://orcid.org/0000-0002-5058-5823 en_US
dc.author.affiliation Lebanese American University en_US


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search LAUR


Advanced Search

Browse

My Account